Hs03359639_cn

• Gene Symbol: ALPL
• Assay Reference Genome Location: Chr.1:21510852 on build GRCh38
• Cytoband: 1p36.12

Target Gene Details

• Entrez Gene ID: 249
• Gene Name: alkaline phosphatase, liver/bone/kidney
• Gene Aliases: AP-TNAP, APTNAP, HOPS, TNAP, TNSALP
• Location: Chr.1:21508982-21578412 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ALPL	NM_000478.5			NP_000469.3
	NM_001127501.3			NP_001120973.2
	NM_001177520.2			NP_001170991.1
	XM_005245818.1			XP_005245875.1
	AB011406.1			BAA32129.1
	AB209814.1			BAD93051.1
	AK293184.1
	AK295608.1
	AK298085.1
	AK312667.1
	BC021289.2
	BC066116.1
	BC090861.1
	BC110909.1
	CN425768.1
	DA574668.1
	DA631560.1
	HY052024.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv428432	Chr.1:21409691 - 21615921 on Build GRCh38	Gain	NBPF3 RAP1GAP ALPL
esv34155	Chr.1:21367084 - 21840123 on Build GRCh38	Loss	NBPF3 RAP1GAP USP48 HSPG2 ALPL LDLRAD2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

skeletal system development
osteoblast differentiation
endochondral ossification
developmental process involved in reproduction
dephosphorylation
response to lipopolysaccharide
response to vitamin D
response to antibiotic
response to glucocorticoid
cellular response to organic cyclic compound
cementum mineralization

Function(s)

alkaline phosphatase activity
protein binding
pyrophosphatase activity
metal ion binding